BACKGROUND:Cholangiocarcinoma complicated by intraabdominal desmoid-type fibromatosis(DTF)is uncommon. There are no reports on patients with this type of fibromatosis, in which the pre-operative treatment(including di...BACKGROUND:Cholangiocarcinoma complicated by intraabdominal desmoid-type fibromatosis(DTF)is uncommon. There are no reports on patients with this type of fibromatosis, in which the pre-operative treatment(including diagnosis), surgical approach,post-operative pathologic reports,and prognosis are discussed. METHOD:The clinicopathological features of a 49-year-old man were retrospectively analyzed. RESULTS:Cholangiocarcinoma located in the inferior segment of the bile duct was considered pre-operatively on the basis of clinical findings.At the time of pancreaticoduodenectomy,the mesojejunum was stiff without nodules or a mass at a distance of approximately 80 cm from the ligament of Treitz.Complete excision of the entire lesion of the intestinal mesenteric contracture and its subsidiary was performed.Post-operative pathologic findings confirmed an adenocarcinoma located at the extremity of the common bile duct and infiltrating the full thickness of the common bile duct as well as the deep muscular layer of the duodenum.The contracted jejunal mesentery was shown to have DTF.The patient was alive with no evidence of recurrence after a follow-up of 6 months. CONCLUSIONS:The patient had a rare hereditary disease with intra-abdominal DTF,which manifests the characteristics of an aggressive growth pattern and a high rate of local recurrence; conservative therapy is recommended.Complete excision of the fibromatous lesion during pancreaticoduodenectomy may maximally decrease the risk of local recurrence.展开更多
Desmoid-type fibromatosis (DF) is a rare, locally invasive, non-metastasizing soft tissue proliferation derived from mesenchymal progenitor cells. The incidence of DF is 2 to 4 per million per year in the general popu...Desmoid-type fibromatosis (DF) is a rare, locally invasive, non-metastasizing soft tissue proliferation derived from mesenchymal progenitor cells. The incidence of DF is 2 to 4 per million per year in the general population and typically affects adults between the ages of 35 - 40. Desmoid-type fibromatosis can either be sporadic or associated with mutation in the adenomatous polyposis coli gene. Trauma, surgery, pregnancy, and oral contraceptives have been identified as risk factors for the development of desmoid-type fibromatosis. MRI is the standard for image characterization, and CT image-guided core needle biopsy for diagnosis. “Wait and see” is the current management recommendation, and studies of y-secretase inhibitors and tyrosine kinase inhibitors have shown promise in the treatment of desmoid-type fibromatosis. This report presents a case of rare right shoulder desmoid type fibromatosis in a 48-year-old male that was missed on an initial workup including EMG/NCS and shoulder MRI, and demonstrates the importance of revisiting the diagnostic process if a former workup has yielded an unclear clinical picture.展开更多
Desmoid-type fibromatosis (DF) is a rare monoclonal fibroblastic proliferation that is characterized by locally infiltrative but rarely metastatic lesions. Tyrosine kinase and γ-secretase inhibitors are primarily use...Desmoid-type fibromatosis (DF) is a rare monoclonal fibroblastic proliferation that is characterized by locally infiltrative but rarely metastatic lesions. Tyrosine kinase and γ-secretase inhibitors are primarily used in the targeted therapy of DF. The use of these drugs, however, is mainly based on the recommendations of retrospective studies with small sample sizes. Previous studies that focused on the mechanism, efficacy, and safety of targeted therapy for DF were reviewed to provide references for clinical applications and research. The efficacy and safety of targeted therapy were compared with those of other systemic therapy options. Targeted therapy does not provide considerable advantages in efficacy and safety over other medical treatments and is usually applied after the failure of antihormonal therapies, nonsteroidal anti-inflammatory drugs, and chemotherapy. Further studies are required to explore the mechanism, indications, and appropriate drug dosage of the targeted therapy of DF.展开更多
Desmoid-type fibromatoses are clonal fibroblastic proliferations that arise in deep soft tissues and are characterized by infiltrative growth and a tendency toward local recurrence. The molecular genetic studies show ...Desmoid-type fibromatoses are clonal fibroblastic proliferations that arise in deep soft tissues and are characterized by infiltrative growth and a tendency toward local recurrence. The molecular genetic studies show that there are chromosomal abnormalities relating to the pathogenesis of this lesion, such as trisomy 8. However, there are different results concerning this type of abnormality. Fluorescence in situ hybridization （FISH） is a sensitive and reproducible technique that combines molecular cytogenetics with morphologic information and brings them together in a single frame for evaluation. To explore the controversy of the aneuploid abnormality of chromosome 8, we collected specimens of desmoid-type fibromatosis to determine whether the existence of trisomy 8 chromosome abnormalities correlates with clinicopathologic features, as well as to investigate the feasibility of detecting trisomy 8 in FFPE tissue by FISH method.展开更多
Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciati...Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciatic nerve. NMC usually occurs in childhood, and some cases are congenital. Here, we report a case of adult orbital intraconal NMC. The resected specimens were fish-like and tough. Histological pathology suggested that the specimen was composed of mature skeletal muscle tissue interspersed with peripheral nerve bundles. Histopathological examination revealed that the left orbital mass was composed of mature skeletal muscle tissue interspersed with surrounding nerve fascicles. Immunohistochemistry: S-100 protein was positive. In general, postoperative histopathological examination ultimately determined the diagnosis of NMC in the intraconal region of the orbital muscle. Case Presentation: A 51-year-old female patient was admitted to the hospital due to periocular pain for 2 weeks. Orbital CT scan showed an irregular soft tissue density in the left orbital muscle cone area, and the boundary between the local and the left lateral rectus muscle was unclear. Magnetic resonance imaging showed that there was an oval abnormal signal in the posterior lateral space of the left eyeball, with a clear edge and a size of about 22 mm × 8 mm. The boundary between the local area and the left lateral rectus muscle was unclear, and the optic nerve was compressed to the right side. The T1 WI showed low signal, T2-FS showed high and low mixed signal, and the enhanced scan showed continuous obvious enhancement. Eventually, the patient underwent surgical resection of the lesion. Conclusions: NMC is a rare benign peripheral neuropathy, especially NMC in the orbital muscle cone. There is no specificity in clinical and imaging examinations. Accurate diagnosis before surgical resection is very challenging for clinicians and radiologists. Importantly, we can differentiate orbital NMC from other types of orbital tumors.展开更多
文摘BACKGROUND:Cholangiocarcinoma complicated by intraabdominal desmoid-type fibromatosis(DTF)is uncommon. There are no reports on patients with this type of fibromatosis, in which the pre-operative treatment(including diagnosis), surgical approach,post-operative pathologic reports,and prognosis are discussed. METHOD:The clinicopathological features of a 49-year-old man were retrospectively analyzed. RESULTS:Cholangiocarcinoma located in the inferior segment of the bile duct was considered pre-operatively on the basis of clinical findings.At the time of pancreaticoduodenectomy,the mesojejunum was stiff without nodules or a mass at a distance of approximately 80 cm from the ligament of Treitz.Complete excision of the entire lesion of the intestinal mesenteric contracture and its subsidiary was performed.Post-operative pathologic findings confirmed an adenocarcinoma located at the extremity of the common bile duct and infiltrating the full thickness of the common bile duct as well as the deep muscular layer of the duodenum.The contracted jejunal mesentery was shown to have DTF.The patient was alive with no evidence of recurrence after a follow-up of 6 months. CONCLUSIONS:The patient had a rare hereditary disease with intra-abdominal DTF,which manifests the characteristics of an aggressive growth pattern and a high rate of local recurrence; conservative therapy is recommended.Complete excision of the fibromatous lesion during pancreaticoduodenectomy may maximally decrease the risk of local recurrence.
文摘Desmoid-type fibromatosis (DF) is a rare, locally invasive, non-metastasizing soft tissue proliferation derived from mesenchymal progenitor cells. The incidence of DF is 2 to 4 per million per year in the general population and typically affects adults between the ages of 35 - 40. Desmoid-type fibromatosis can either be sporadic or associated with mutation in the adenomatous polyposis coli gene. Trauma, surgery, pregnancy, and oral contraceptives have been identified as risk factors for the development of desmoid-type fibromatosis. MRI is the standard for image characterization, and CT image-guided core needle biopsy for diagnosis. “Wait and see” is the current management recommendation, and studies of y-secretase inhibitors and tyrosine kinase inhibitors have shown promise in the treatment of desmoid-type fibromatosis. This report presents a case of rare right shoulder desmoid type fibromatosis in a 48-year-old male that was missed on an initial workup including EMG/NCS and shoulder MRI, and demonstrates the importance of revisiting the diagnostic process if a former workup has yielded an unclear clinical picture.
基金We would like to thank all faculty members who assisted us in this study. This work was supported by the Beijing Municipal Administration of Hospitals Clinical Medicine Development Special Funding Support (No. XMLX201708)the Capital Health Research and Development Special Funds (No. 2016-2-2151)+1 种基金Beijing Municipal Administration of Hospitafs Ascent Plan (No. DFL20181104)the National Natural Science Foundation of China (No. 31770836).
文摘Desmoid-type fibromatosis (DF) is a rare monoclonal fibroblastic proliferation that is characterized by locally infiltrative but rarely metastatic lesions. Tyrosine kinase and γ-secretase inhibitors are primarily used in the targeted therapy of DF. The use of these drugs, however, is mainly based on the recommendations of retrospective studies with small sample sizes. Previous studies that focused on the mechanism, efficacy, and safety of targeted therapy for DF were reviewed to provide references for clinical applications and research. The efficacy and safety of targeted therapy were compared with those of other systemic therapy options. Targeted therapy does not provide considerable advantages in efficacy and safety over other medical treatments and is usually applied after the failure of antihormonal therapies, nonsteroidal anti-inflammatory drugs, and chemotherapy. Further studies are required to explore the mechanism, indications, and appropriate drug dosage of the targeted therapy of DF.
文摘Desmoid-type fibromatoses are clonal fibroblastic proliferations that arise in deep soft tissues and are characterized by infiltrative growth and a tendency toward local recurrence. The molecular genetic studies show that there are chromosomal abnormalities relating to the pathogenesis of this lesion, such as trisomy 8. However, there are different results concerning this type of abnormality. Fluorescence in situ hybridization （FISH） is a sensitive and reproducible technique that combines molecular cytogenetics with morphologic information and brings them together in a single frame for evaluation. To explore the controversy of the aneuploid abnormality of chromosome 8, we collected specimens of desmoid-type fibromatosis to determine whether the existence of trisomy 8 chromosome abnormalities correlates with clinicopathologic features, as well as to investigate the feasibility of detecting trisomy 8 in FFPE tissue by FISH method.
文摘Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciatic nerve. NMC usually occurs in childhood, and some cases are congenital. Here, we report a case of adult orbital intraconal NMC. The resected specimens were fish-like and tough. Histological pathology suggested that the specimen was composed of mature skeletal muscle tissue interspersed with peripheral nerve bundles. Histopathological examination revealed that the left orbital mass was composed of mature skeletal muscle tissue interspersed with surrounding nerve fascicles. Immunohistochemistry: S-100 protein was positive. In general, postoperative histopathological examination ultimately determined the diagnosis of NMC in the intraconal region of the orbital muscle. Case Presentation: A 51-year-old female patient was admitted to the hospital due to periocular pain for 2 weeks. Orbital CT scan showed an irregular soft tissue density in the left orbital muscle cone area, and the boundary between the local and the left lateral rectus muscle was unclear. Magnetic resonance imaging showed that there was an oval abnormal signal in the posterior lateral space of the left eyeball, with a clear edge and a size of about 22 mm × 8 mm. The boundary between the local area and the left lateral rectus muscle was unclear, and the optic nerve was compressed to the right side. The T1 WI showed low signal, T2-FS showed high and low mixed signal, and the enhanced scan showed continuous obvious enhancement. Eventually, the patient underwent surgical resection of the lesion. Conclusions: NMC is a rare benign peripheral neuropathy, especially NMC in the orbital muscle cone. There is no specificity in clinical and imaging examinations. Accurate diagnosis before surgical resection is very challenging for clinicians and radiologists. Importantly, we can differentiate orbital NMC from other types of orbital tumors.
